DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for hereditary spastic paraplegia 43

Hereditary spastic paraplegia 43 [DOID:0110795]

A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12.

Synonyms:  hereditary spastic paraplegia 43,  DOID:0110795,  familial spastic paraplegia 43,  autosomal recessive spastic paraplegia 43,  autosomal recessive spastic paraplegia type 43 ...

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.